The Rare Disease Report Podcast: Cystic Fibrosis

May 28, 2021

Jonathan Alicea is an assistant editor for HCPLive. He graduated from Princeton University with a degree with English and minors in Linguistics and Theater. He spends his free time writing plays, playing PlayStation, enjoying the company of his 2 pugs, and navigating a right-handed world as a lefty. You can email him at jalicea@mjhlifesciences.com.

Jordana Hoppe, MD, discusses the burden of cystic fibrosis on infants and children.

Quick Facts about Cystic Fibrosis

US prevalence is ~35,000 indivdiuals.

CF can affect the lungs, liver, pancreas, kidney, and intenstines, to name a few.

It affects primary caucasian populations, although not exclusively.

Universal newborn screening has allowed CF to be diagnosed upon birth.

Common symptoms include, but are not limited to, high salt concentrations in sweat; persistent coughing, wheezing, and shortness of breath; frequent lung infections; poor growth or weight gain.

Both parents must pass on their defective CFTR gene for their offspring to have CF.

Although treatments allow for management of the disease, there is no known cure for it.

Quotes of Interest

A physician called Dr. Paul di Sant'Agnese recognized that children who had been diagnosed with cystic fibrosis appeared to be more susceptible to heat exhaustion during the summers and periods of heat waves.

It wasn't until 1989 that the CF gene was eventually discovered, and since that time, there have been more than 1000 different mutations that lead to cystic fibrosis that have been identified within that gene.

There are a lot of nutritional therapies that we start right away at the time of diagnosis.

Right now, the most highly effective CFTR modulator is a treatment that is known as Trikafta [elexacaftor/tezacaftor/ivacaftor].

It really takes a whole team of individuals in order to provide the best quality care for somebody with cystic fibrosis.

The US Centers for Disease Control and Prevention (CDC) places the US prevalence of cystic fibrosis, or CF, at roughly 35,000.

Cystic fibrosis is a genetic disorder caused by a mutation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Patients with CF typically experience a build-up of mucus, which can to blocking of the airwards as well as increased likelihood for infection. They also may have difficulty with proper digestion and absorption of nutrients.

As such, malnutrition, growth deficiency, and lung damage (among other adverse outcomes) are marked characteristics of the disease.

In honor of Cystic Fibrosis Awareness Month, Jordana Hoppe, MD, a pediatric pulmonologist based at Children’s Hospital Colorado, joined The Rare Disease Report to discuss the disease, its history, pathophysiology, related challenges, prevalence, and therapeutic options.

She talked about diagnostic practices, including the impact of universal newborn screening, as well as the state of research for CF. She also discussed her own recent work with CFTR modulators in pediatric populations.

Hoppe has been involved in numerous publications regarding both CF and pulmonary populations. Currently, she teaches pediatric pulmonology at the University of Colorado School of Medicine and Children’s Hospital Colorado and is a member of the American Academy of Pediatrics and American Thoracic Society.